Incidental Mutation 'V7732:Atmin'
| ID |
44042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atmin
|
| Ensembl Gene |
ENSMUSG00000047388 |
| Gene Name |
ATM interactor |
| Synonyms |
gpg6, Asciz |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
V7732 ()
of strain
may
|
| Quality Score |
185 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
117670132-117687184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 117683218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 293
(P293S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109099]
|
| AlphaFold |
Q6P9S1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109099
AA Change: P293S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104727
Gene: ENSMUSG00000047388
AA Change: P293S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
62 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
80 |
105 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
127 |
156 |
7.11e0 |
SMART |
|
ZnF_C2H2
|
161 |
181 |
4.5e1 |
SMART |
|
ZnF_C2H2
|
187 |
210 |
1.06e2 |
SMART |
|
low complexity region
|
289 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
738 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3046 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.9%
- 20x: 90.3%
|
| Validation Efficiency |
96% (25/26) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit fetal lethality, craniofacial defects, midbrain exencephaly, and premature senescence of mouse embryonic fibroblasts. Homozygotes for an ENU-induced mutation exhibit left-right patterning defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,103,911 (GRCm39) |
F793L |
probably benign |
Het |
| Card11 |
G |
A |
5: 140,862,250 (GRCm39) |
R1016* |
probably null |
Het |
| Cep89 |
A |
G |
7: 35,102,523 (GRCm39) |
S79G |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,670 (GRCm39) |
V2227A |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,412 (GRCm39) |
V534A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,715,892 (GRCm39) |
H124L |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,194 (GRCm39) |
R66Q |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,122 (GRCm39) |
Y574C |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,952,107 (GRCm39) |
A1178S |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,317,960 (GRCm39) |
T106A |
probably benign |
Het |
| Itpr3 |
G |
C |
17: 27,330,000 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
G |
T |
17: 27,329,998 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,506,561 (GRCm39) |
|
probably benign |
Het |
| Rabac1 |
T |
A |
7: 24,671,644 (GRCm39) |
Q51L |
probably damaging |
Het |
| Rgma |
A |
G |
7: 73,067,068 (GRCm39) |
T108A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,378,891 (GRCm39) |
T385S |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,780,677 (GRCm39) |
T357A |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,251,368 (GRCm39) |
I711V |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,172 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atmin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00639:Atmin
|
APN |
8 |
117,683,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02680:Atmin
|
APN |
8 |
117,684,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Atmin
|
APN |
8 |
117,684,164 (GRCm39) |
nonsense |
probably null |
|
|
K3955:Atmin
|
UTSW |
8 |
117,683,775 (GRCm39) |
nonsense |
probably null |
|
|
P0038:Atmin
|
UTSW |
8 |
117,683,775 (GRCm39) |
nonsense |
probably null |
|
|
R1440:Atmin
|
UTSW |
8 |
117,684,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1498:Atmin
|
UTSW |
8 |
117,681,540 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1515:Atmin
|
UTSW |
8 |
117,681,579 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2094:Atmin
|
UTSW |
8 |
117,684,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2306:Atmin
|
UTSW |
8 |
117,684,389 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2363:Atmin
|
UTSW |
8 |
117,681,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2866:Atmin
|
UTSW |
8 |
117,683,112 (GRCm39) |
missense |
probably benign |
|
|
R3743:Atmin
|
UTSW |
8 |
117,683,312 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3901:Atmin
|
UTSW |
8 |
117,683,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3902:Atmin
|
UTSW |
8 |
117,683,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4664:Atmin
|
UTSW |
8 |
117,684,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4665:Atmin
|
UTSW |
8 |
117,684,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Atmin
|
UTSW |
8 |
117,684,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5441:Atmin
|
UTSW |
8 |
117,684,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5496:Atmin
|
UTSW |
8 |
117,683,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6914:Atmin
|
UTSW |
8 |
117,683,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6942:Atmin
|
UTSW |
8 |
117,683,452 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6965:Atmin
|
UTSW |
8 |
117,683,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Atmin
|
UTSW |
8 |
117,683,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7492:Atmin
|
UTSW |
8 |
117,683,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7647:Atmin
|
UTSW |
8 |
117,684,661 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8068:Atmin
|
UTSW |
8 |
117,683,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8726:Atmin
|
UTSW |
8 |
117,681,525 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8734:Atmin
|
UTSW |
8 |
117,681,525 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8991:Atmin
|
UTSW |
8 |
117,679,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Atmin
|
UTSW |
8 |
117,684,019 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9429:Atmin
|
UTSW |
8 |
117,670,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9478:Atmin
|
UTSW |
8 |
117,681,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9535:Atmin
|
UTSW |
8 |
117,683,327 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9720:Atmin
|
UTSW |
8 |
117,681,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0020:Atmin
|
UTSW |
8 |
117,679,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAAGCAGCTCCAATCCACCCTTC -3'
(R):5'- GGAAATGCTGGTCCTCTGACACAC -3'
Sequencing Primer
(F):5'- TACTGTTTCCAGAGACCCACC -3'
(R):5'- TCTTGTAAAGGACTACACAGGC -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation